Canonical Allele Identifier: CA2673080995

Gene: TERT

Linked Data

• ClinVar Variation Id: 2951505
• ClinVar RCV Id: RCV003805207
• gnomAD v4: 5-1294952-AGGGAGCGCACGGCTCGGCAGCG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1294961_1294982del , CM000667.2:g.1294961_1294982del	GRCh38
NC_000005.9:g.1295076_1295097del , CM000667.1:g.1295076_1295097del	GRCh37
NC_000005.8:g.1348076_1348097del	NCBI36
NG_009265.1:g.5074_5095del , LRG_343:g.5074_5095del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.16_37del MANE Select	ENSP00000309572.5:p.Arg6CysfsTer?
ENST00000656021.1:c.16_37del	ENSP00000499759.1:p.Arg6CysfsTer?
ENST00000310581.9:c.16_37del	ENSP00000309572.5:p.Arg6CysfsTer?
ENST00000334602.10:c.16_37del	ENSP00000334346.6:p.Arg6CysfsTer?
ENST00000460137.6:c.16_37del	ENSP00000425003.1:p.Arg6CysfsTer?
ENST00000508104.2:c.16_37del	ENSP00000426042.2:p.Arg6CysfsTer?
ENST00000522877.1:n.96_117del
NM_001193376.1:c.16_37del	NP_001180305.1:p.Arg6CysfsTer?
NM_198253.2:c.16_37del , LRG_343t1:c.16_37del	NP_937983.2:p.Arg6CysfsTer?
NR_149162.1:n.74_95del
NR_149163.1:n.74_95del
NM_001193376.2:c.16_37del	NP_001180305.1:p.Arg6CysfsTer?
NM_198253.3:c.16_37del MANE Select	NP_937983.2:p.Arg6CysfsTer?
NR_149162.2:n.95_116del
NR_149163.2:n.95_116del
NM_001193376.3:c.16_37del	NP_001180305.1:p.Arg6CysfsTer?
NR_149162.3:n.95_116del
NR_149163.3:n.95_116del